Canonical Allele Identifier: PA2828361577
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 253297
ClinVar RCV Id: RCV000239745 RCV000523884 RCV000704631 RCV003992248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg1831Gln
CA10586302
NM_001369788.1:c.5492G>A